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Results: 1-9 |
Results: 9
Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1
Authors: Robertson, SP Walsh, S Oldridge, M Gunn, T Becroft, D Wilkie, AOM
Citation: Sp. Robertson et al., Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1, AM J HU GEN, 69(1), 2001, pp. 223-227
Potential gene conversion and source genes for recently integrated Alu elements
Authors: Roy, AM Carroll, ML Nguyen, SV Salem, AH Oldridge, M Wilkie, AOM Batzer, MA Deininger, PL
Citation: Am. Roy et al., Potential gene conversion and source genes for recently integrated Alu elements, GENOME RES, 10(10), 2000, pp. 1485-1495
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Authors: Afzal, AR Rajab, A Fenske, CD Oldridge, M Elanko, N Ternes-Pereira, E Tuysuz, B Murday, VA Patton, MA Wilkie, AOM Jeffery, S
Citation: Ar. Afzal et al., Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2, NAT GENET, 25(4), 2000, pp. 419-422
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
Authors: Oldridge, M Fortuna, AM Maringa, M Propping, P Mansour, S Pollitt, C DeChiara, TM Kimble, RB Valenzuela, DM Yancopoulos, GD Wilkie, AOM
Citation: M. Oldridge et al., Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B, NAT GENET, 24(3), 2000, pp. 275-278
Newly recognised craniosynostosis syndrome that does not map to known disease loci
Authors: Blair, EM Walsh, S Oldridge, M Wall, SS Wilkie, AOM
Citation: Em. Blair et al., Newly recognised craniosynostosis syndrome that does not map to known disease loci, AM J MED G, 95(1), 2000, pp. 4-9
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B
Authors: Schwabe, GC Tinschert, S Buschow, C Meinecke, P Wolff, G Gillessen-Kaesbach, G Oldridge, M Wilkie, AOM Komec, R Mundlos, S
Citation: Gc. Schwabe et al., Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B, AM J HU GEN, 67(4), 2000, pp. 822-831
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
Authors: Glaser, RL Jiang, W Boyadjiev, SA Tran, AK Zachary, AA Van Maldergem, L Johnson, M Walsh, S Oldridge, M Wall, SA Wilkie, AOM Jabs, EW
Citation: Rl. Glaser et al., Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome, AM J HU GEN, 66(3), 2000, pp. 768-777
De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
Authors: Oldridge, M Zackai, EH McDonald-McGinn, DM Iseki, S Morriss-Kay, GM Twigg, RF Johnson, D Wall, SA Jiang, W Theda, C Jabs, EW Wilkie, AOM
Citation: M. Oldridge et al., De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome, AM J HU GEN, 64(2), 1999, pp. 446-461
Brachydactyly type B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity
Authors: Oldridge, M Temple, IK Santos, HG Gibbons, RJ Mustafa, Z Chapman, KE Loughlin, J Wilkie, AOM
Citation: M. Oldridge et al., Brachydactyly type B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity, AM J HU GEN, 64(2), 1999, pp. 578-585
Risultati: 1-9 |